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Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Post-traumatic Stress Disorder and the Mental Burden Resulting from the Dobbs Decision.
Obstet Gynecol Clin North Am
March 2025
Department of Obstetrics and Gynecology, College of Medicine, University of Florida, FL, USA.
The obstetrics and mental health care fields have significant crossover. Women with unintended, undesired, or medically complex pregnancies are at greater risk of adverse mental health outcomes, which have the capacity to create long-lasting and intergenerational ripple effects within their larger family unit. Given the frequency with which women seek pregnancy terminations, the numerous factors that influence care accessibility, and the serious repercussions that stem from insufficient use of evidence-based care surrounding pregnancy termination, women are at risk of experiencing a range of mental health outcomes based on their experiences around pregnancy termination.
View Article and Find Full Text PDFImmigrant experiences of harm in sexual and reproductive healthcare in Spain.
Soc Sci Med
January 2025
Department of Sociology, Rice University, 6100 Main Street, Houston, TX, 77005, USA. Electronic address:
The medical encounter represents a site where patients may be harmed, with intersecting vulnerabilities shaping the risk and nature of this harm. Sexual and reproductive healthcare is an important site for exploring this dynamic. Questions concerning how immigrant women experience sexual and reproductive healthcare abound, with researchers and practitioners calling for greater attention to a population whose experiences are underrepresented in existing literature.
View Article and Find Full Text PDFHypophosphatemia in pregnancy: A case report.
Niger Med J
January 2025
Department of Obstetrics and Gynaecology, AIIMS, Bilaspur, Himachal Pradesh, India.
Autosomal hypophosphatemic rickets though a rare genetic disorder can lead to significant discomfort to the patient resulting in clinical deterioration and a poor quality of life. We describe a case of a 33-year-old woman G2P1001 at 6 weeks of gestation with complaints of myalgia and bony pains. Keeping her history of bony pains and fractures in mind, she was further evaluated.
View Article and Find Full Text PDFInvestigation of the frequency and selected prevalence factors of equid alphaherpesvirus 4 viremia in horses with acute onset of fever and respiratory signs.
J Vet Diagn Invest
January 2025
Department of Obstetrics, Gynecology and Reproductive Biology, Massachusetts General Hospital, Boston, MA, USA.
Equid alphaherpesvirus 4 (EqAHV4; , ; equine rhinopneumonitis virus) has seldom been associated with complications such as abortion and myeloencephalopathy, given the low tendency of this virus to induce viremia. We investigated the frequency of EqAHV4 viremia in horses with fever and respiratory signs. Case selection included all equids with EqAHV4 quantitative real-time PCR (qPCR)-positive nasal secretions (defined as EqAHV4 qPCR-positive cases) submitted to a diagnostic laboratory.
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